Full data view for gene BBS7

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_176824.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 10 c.1002del r.(?) p.(Asn335Ilefs*47) Unknown ACMG pathogenic g.122768595del g.121847440del NM_176824.2:c.1002del, NP_789794.1:p.(Asn335IlefsTer47), NC_000004.11:g.122768595del - BBS7_000069 - PubMed: Wang 2018 - - Germline ? - - 0 - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082404 PubMed: Wang 2018 - M ? China Han Chinese - 0 - - 1 LOVD
+/. 10 c.1002del r.(?) p.(Asn335Ilefs*47) Both (homozygous) - pathogenic g.122768594delA - c.1002delT(p.Ile334Ilefs*15) - BBS7_000069 - PubMed: Chen-2013 - - Germline - - - 0 - DNA arraySEQ, SEQ, PCR blood - retinal disease - PubMed: Chen-2013 - F - China Chinese - 0 - - 1 LOVD
+/. 10 c.1002del r.(?) p.(Asn335Ilefs*47) Both (homozygous) ACMG pathogenic g.122768595del g.121847440del BBS7 c.1002delT, p.N335Ifs*47 - BBS7_000069 homozygous PubMed: Meng 2021 - - Germline yes - - 0 - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F7-II:1 PubMed: Meng 2021 - M no China - - 0 - - 1 LOVD
+/. - c.1002delT r.(?) p.(Asn335Ilefs*47) Paternal (confirmed) ACMG pathogenic (recessive) g.122768595del g.121847440del c.1002delT, p.N335Ifs*47 - BBS7_000069 Compound heterozygous PubMed: Tao 2020 - - Germline yes - - 0 - DNA SEQ-NG-I, SEQ blood targeted panel-based next-generation sequencing, 441 hereditary eye disease genes retinal disease P01 PubMed: Tao 2020 - M - China - - 0 - - 1 LOVD
+/. - c.1002delT r.(?) p.(Asn335Ilefs*47) Both (homozygous) ACMG pathogenic (recessive) g.122768595del g.121847440del c.1002delT, p.N335Ifs - BBS7_000069 Homozygous PubMed: Tao 2020 - - Germline yes - - 0 - DNA SEQ-NG-I, SEQ blood targeted panel-based next-generation sequencing, 441 hereditary eye disease genes retinal disease P02 PubMed: Tao 2020 - M - China - - 0 - - 1 LOVD
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